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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:cataract 47
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Accession:DOID:0070353 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the SLC16A12 gene on chromosome 10q23, characterized by progressive juvenile cataract with microcornea. (DO)
Synonyms:exact_synonym: CATARACT, JUVENILE, WITH MICROCORNEA;   CJMG;   CTRCT47;   juvenile cataract with microcornea and glucosuria
 primary_id: MESH:C567434
 alt_id: OMIM:612018
For additional species annotation, visit the Alliance of Genome Resources.


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cataract 47 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc16a12 solute carrier family 16, member 12 ISO ClinVar Annotator: match by OMIM:612018 OMIM
ClinVar
PMID:17458810, PMID:18304496, PMID:21778275, PMID:26376857 NCBI chr 1:252,976,071...253,054,500
Ensembl chr 1:252,976,644...253,000,760
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    sensory system disease 5162
      eye disease 2592
        lens disease 220
          cataract 213
            cataract 47 1
Path 2
Term Annotations click to browse term
  disease 16103
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        acquired metabolic disease 2792
          carbohydrate metabolism disease 1763
            glucose metabolism disease 1763
              Glycosuria 5
                renal glycosuria 4
                  cataract 47 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.